Ch 6 (pp 119-124)

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Questions and Answers

What can result in uniparental disomy?

Loss of one of the extra chromosomes in a trisomic conception

Union of a gamete containing two copies of a specific chromosome with a gamete containing no copies of that chromosome

Mitotic errors causing chromosome loss with subsequent duplication of the homologous chromosome

All of the above (correct)

Which syndrome has been associated with uniparental disomy?

Prader–Willi syndrome

Angelman syndrome

Russell–Silver syndrome

All of the above (correct)

What can cause duplications of genetic material?

Unequal crossover during meiosis

Both A and B (correct)

Mitotic errors

Reciprocal translocation

Which tend to produce less-serious consequences: deletions or duplications?

Duplications Signup and view all the answers

What can result in an embryo having two copies of the chromosome contributed by one parent?

Loss of one of the extra chromosomes in a trisomic conception Signup and view all the answers

In which disease has uniparental disomy been observed?

All of the above Signup and view all the answers

What is the consequence of mitotic errors causing chromosome loss with subsequent duplication of the homologous chromosome?

Uniparental disomy Signup and view all the answers

What principle does the tendency for duplications to produce less-serious consequences than deletions illustrate?

Loss of genetic material is more serious than an excess of genetic material Signup and view all the answers

What can cause a partial trisomy, or duplication, of genetic material?

Both A and B Signup and view all the answers

What can result in an embryo having two copies of a specific chromosome?

Union of a gamete containing two copies of a specific chromosome with a gamete containing no copies of that chromosome Signup and view all the answers

Which of the following accurately describes ring chromosomes?

Result from deletions at both tips of a chromosome, leading to fusion and potential loss Signup and view all the answers

What is the consequence of inversions in chromosomes?

Can interfere with meiosis, resulting in chromosome abnormalities in offspring Signup and view all the answers

What is the observed frequency of individuals carrying an inversion?

About 1 in 1000 people Signup and view all the answers

Which chromosome abnormality is observed in Turner syndrome?

X chromosome isochromosomes Signup and view all the answers

What is the outcome of most autosomal aberrations?

Induce consistent recognizable patterns of multiple malformations and developmental disabilities Signup and view all the answers

What is the impact of chromosome abnormalities on most individuals?

Associated with developmental delay and intellectual disability Signup and view all the answers

What is the result of faulty division in isochromosomes?

Often lethal Signup and view all the answers

What is the observed phenotype associated with isochromosome 18q?

Edwards syndrome phenotype Signup and view all the answers

What is the impact of duplications compared to deletions of the same region?

Duplications generally have more severe consequences than deletions Signup and view all the answers

What is the observed consequence of ring chromosomes in individuals?

Result in fusion and potential loss Signup and view all the answers

Which of the following is a common feature of autosomal chromosome disorders?

Growth delay Signup and view all the answers

What is the specific consequence of the Philadelphia chromosome in Chronic Myelogenous Leukemia (CML)?

Increased tyrosine kinase activity Signup and view all the answers

Which cancer involves a reciprocal translocation of chromosomes 8 and 14?

Burkitt lymphoma Signup and view all the answers

What is the primary purpose of cytogenetic evaluation of bone marrow cells from leukemia patients?

Routine part of diagnosis Signup and view all the answers

Which condition is associated with increased chromosome breakage and cancer risk due to faulty DNA replication or repair?

Ataxia–telangiectasia Signup and view all the answers

In which type of cancer is the Philadelphia chromosome consistently associated?

Chronic Myelogenous Leukemia Signup and view all the answers

What is the consequence of chromosome rearrangements in somatic cells?

Important cancers in humans Signup and view all the answers

Which of the following is a characteristic feature of chromosome abnormalities?

Developmental delay Signup and view all the answers

What is indicated for newborns with multiple congenital malformations or children with developmental delay?

Chromosome analysis Signup and view all the answers

Which syndrome is associated with defects in DNA replication or repair and increased cancer risk?

Fanconi anemia Signup and view all the answers

Study Notes

Chromosome Abnormalities and Cancer Cytogenetics

Growth delay is commonly seen in autosomal syndromes.
Congenital malformations, especially heart defects, occur frequently in autosomal chromosome disorders, with specific patterns.
Chromosome analysis is indicated for newborns with multiple congenital malformations or children with developmental delay.
Chromosome abnormalities result in developmental delay, intellectual disability, characteristic facial features, and various congenital malformations.
Chromosome rearrangements in somatic cells lead to important cancers in humans.
Chronic myelogenous leukemia (CML) is consistently associated with the Philadelphia chromosome, a translocation between chromosomes 9 and 22.
The Philadelphia chromosome results in increased tyrosine kinase activity, leading to malignancy in hematopoietic cells.
Burkitt lymphoma involves a reciprocal translocation of chromosomes 8 and 14, activating the MYC proto-oncogene and causing malignancies.
Chromosome rearrangements are identified in more than 40 different types of cancer, leading to more accurate prognosis and better therapy.
Cytogenetic evaluation of bone marrow cells from leukemia patients is a routine part of diagnosis.
Chromosome instability syndromes, such as ataxia–telangiectasia and Fanconi anemia, are associated with increased chromosome breakage and cancer risk due to faulty DNA replication or repair.
Bloom syndrome, Fanconi anemia, and other chromosome instability syndromes are associated with increased cancer risk and defects in DNA replication or repair.

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Test your knowledge of chromosome abnormalities and cancer cytogenetics with this quiz. Explore the link between chromosome rearrangements and various cancers, the role of cytogenetic evaluation in leukemia diagnosis, and the association of chromosome instability syndromes with increased cancer risk.